Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population
Öz
SüleymanDemirel Üniversitesi
TIP FAKÜLTESİ DERGİSİ: 2005 Eylül; 12(3)
Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population
Nilufer Sahin-Calapoglu, Mustafa Calapoglu, Ahmet Karaguzel
Özet
Türk Populasyonundaki TMPRSS3 Genine Bağlı Non-Sendromik Resesif Işitme Kaybı
Canlı doğumlarda yaklaşık 1/1000 sıklıkla görülen konjenital sağırlıkların %50.sinin temelinde genetik nedenler yatmaktadır. Non-sendromik işitme kayıpları kalıtım kalıpları baz alınarak sınıflandırıldıklarında, vakaların %80.inin otozomal resesif kalıtım sergilediği gözlenmektedir. Bu çalışmada non-sendromik otozomal resesif, prelingual işitme kaybına sahip ve yüksek oranda (%77) akraba evliliğinin görüldüğü 26 Türk ailede TMPRSS3 geni ile bağlantının varlığı araştırıldı. Bağlantı ve lod-score analizlerinden elde edilen verilerle 26 aileden altısında (%23) TMPRSS3 genine potansiyel bağlantı saptandı. TMPRSS3 geninin Türk populasyonundaki non-sendromik otozomal resesif sağırlığın başlıca nedenlerinden olabileceği gösterildi. Bu çalışma ile Türk ailelerde TMPRSS3 genine bağlantı ilk kez rapor edilmektedir.
Anahtar kelimeler: Resesif işitme kaybı, TMPRSS3 geni
Abstract
Congenital deafness occurs in approximately 1 in 1000 live births and it is estimated that at least 50% of these cases are due to genetic cause. Non-syndromic deafness is classified according to its mode of inheritance and non-syndromic autosomal recessive deafness accounts for approximately 80% of congenital hereditary deafness case. In this study we present evidence for linkage to TMPRSS3 gene in 26 non-syndromic autosomal recessive prelingual hearing impaired Turkish families with high frequency of consanguinity. Linkage and lod-score data suggesting that 6 of 26 (23%) Turkish families showed potential linkage to TMPRSS3 gene.
The findings imply that TMPRSS3 might be one of the major contributory genes to non-syndromic recessive prelingual deafness in Turkish population. Linkage to TMPRSS3 gene in Turkish patients is reported for the first time in this study.Recessive hearing loss, TMPRSS3 gene
Key words:Recessive hearing loss, TMPRSS3 gene
Anahtar Kelimeler
Kaynakça
- Petit, C. Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 1996; 14, 385-391.
- Sundstrom RA, Laer LV, Camp GV, Smith RJH. Autosomal recessive nonsyndromic hearing loss. Am J Med Genet 1999; 89, 123-129.
- Willems PJ. Genetic causes of hearing loss. The New England Journal o Medicine 2000; 342, 1101-1128.
- Baldwin CT, Weiss S, Farrer LA, Stefano AL, Adair R, Franklyn B, et al. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence of genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995; 4, 1637-1642.
- Petit C, Levilliers J, Hardelin J. Molecular genetics of hearing loss. Annu Rev Genet 2001; 35, 589-646.
- Van Camp G, Smith R. Antwerp Hereditary Hearing Loss Homepage. http://dnalabwww. uia.ac.be/dnalab/hhh.
- Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myhsok B, Mehdi SQ, et. al. Autosomal recessive nonsyndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 1996; 5, 165- 168.
- Bonne-Tamir B, DeStefano A, Briggs CE, Adair R, Franklyn B, Weiss S, et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome21q22.3. Am J Hum Genet 1996; 58, 1254-1259.
Ayrıntılar
Birincil Dil
İngilizce
Konular
-
Bölüm
-
Yayımlanma Tarihi
9 Nisan 2009
Gönderilme Tarihi
8 Nisan 2009
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2005 Cilt: 12 Sayı: 3
APA
Şahin Calapoğlu, N., Calapoğlu, M., & Karagüzel, A. (2009). Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Medical Journal of Süleyman Demirel University, 12(3), 31-35. https://doi.org/10.17343/sdutfd.97245
AMA
1.Şahin Calapoğlu N, Calapoğlu M, Karagüzel A. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. SDÜ Tıp Fak Derg. 2009;12(3):31-35. doi:10.17343/sdutfd.97245
Chicago
Şahin Calapoğlu, Nilüfer, Mustafa Calapoğlu, ve Ahmet Karagüzel. 2009. “Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population”. Medical Journal of Süleyman Demirel University 12 (3): 31-35. https://doi.org/10.17343/sdutfd.97245.
EndNote
Şahin Calapoğlu N, Calapoğlu M, Karagüzel A (01 Nisan 2009) Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. Medical Journal of Süleyman Demirel University 12 3 31–35.
IEEE
[1]N. Şahin Calapoğlu, M. Calapoğlu, ve A. Karagüzel, “Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population”, SDÜ Tıp Fak Derg, c. 12, sy 3, ss. 31–35, Nis. 2009, doi: 10.17343/sdutfd.97245.
ISNAD
Şahin Calapoğlu, Nilüfer - Calapoğlu, Mustafa - Karagüzel, Ahmet. “Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population”. Medical Journal of Süleyman Demirel University 12/3 (01 Nisan 2009): 31-35. https://doi.org/10.17343/sdutfd.97245.
JAMA
1.Şahin Calapoğlu N, Calapoğlu M, Karagüzel A. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. SDÜ Tıp Fak Derg. 2009;12:31–35.
MLA
Şahin Calapoğlu, Nilüfer, vd. “Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population”. Medical Journal of Süleyman Demirel University, c. 12, sy 3, Nisan 2009, ss. 31-35, doi:10.17343/sdutfd.97245.
Vancouver
1.Nilüfer Şahin Calapoğlu, Mustafa Calapoğlu, Ahmet Karagüzel. Non-syndromic recessive hearing loss Linkaged TMPRSS3 gene in the Turkish population. SDÜ Tıp Fak Derg. 01 Nisan 2009;12(3):31-5. doi:10.17343/sdutfd.97245